Search Results
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … of these side effects, since all people are different. Genetic research is helping us figure out how individual …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk … Genetics is a complementary training program in the genetic basis of disease, both adult and pediatric, including …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… and clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from the … His sister and her children decided to go through genomic testing and discovered that they also shared the same RET … understand their treatment options. "Most people seek out genetic testing because they know of a strong family history …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from … alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …